X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (191) 191
epilepsy (154) 154
index medicus (153) 153
clinical neurology (149) 149
lennox-gastaut syndrome (145) 145
male (101) 101
female (94) 94
seizures (93) 93
child (84) 84
infant (71) 71
electroencephalography (70) 70
child, preschool (65) 65
lennox-gastaut-syndrome (64) 64
children (59) 59
pediatrics (59) 59
adolescent (50) 50
neurosciences (46) 46
infantile spasms (43) 43
lennox gastaut syndrome (42) 42
spasms, infantile - genetics (42) 42
adult (40) 40
mutation (39) 39
anticonvulsants - therapeutic use (38) 38
epilepsy - diagnosis (38) 38
epilepsy - genetics (37) 37
neurology (37) 37
epileptic encephalopathy (32) 32
genetic aspects (31) 31
magnetic resonance imaging (31) 31
animals (30) 30
epilepsy - drug therapy (30) 30
genetics & heredity (29) 29
dravet syndrome (28) 28
encephalopathy (28) 28
lennox–gastaut syndrome (28) 28
severe myoclonic epilepsy (28) 28
infant, newborn (27) 27
epilepsy - physiopathology (25) 25
pharmacology & pharmacy (24) 24
syndrome (24) 24
young adult (24) 24
brain - physiopathology (23) 23
intellectual disability - genetics (23) 23
phenotype (23) 23
psychiatry (23) 23
west syndrome (22) 22
spasms, infantile - diagnosis (21) 21
spasms, infantile - physiopathology (21) 21
analysis (20) 20
antiepileptic drugs (20) 20
de-novo mutations (20) 20
genetics (20) 20
lennox gastaut syndrome - genetics (20) 20
retrospective studies (20) 20
mutation - genetics (19) 19
research (19) 19
epilepsies, myoclonic - genetics (18) 18
epilepsy - etiology (18) 18
genetic structures (18) 18
care and treatment (17) 17
convulsions & seizures (17) 17
diagnosis (17) 17
epilepsy - complications (17) 17
lennox‐gastaut syndrome (17) 17
middle aged (17) 17
treatment outcome (17) 17
eeg (16) 16
epilepsies, myoclonic - diagnosis (16) 16
intellectual disability - diagnosis (16) 16
anticonvulsants (15) 15
article (15) 15
childhood (15) 15
generalized epilepsy (15) 15
mental-retardation (15) 15
review (15) 15
age of onset (14) 14
anticonvulsants - adverse effects (14) 14
brain (14) 14
epilepsies, myoclonic - physiopathology (14) 14
follow-up studies (14) 14
risk factors (14) 14
rufinamide (14) 14
vagus nerve-stimulation (14) 14
double-blind (13) 13
efficacy (13) 13
migrating partial seizures (13) 13
mutations (13) 13
prognosis (13) 13
refractory epilepsy (13) 13
spasms, infantile - etiology (13) 13
age factors (12) 12
classification (12) 12
disorders (12) 12
health aspects (12) 12
ketogenic diet (12) 12
patients (12) 12
pediatric epilepsy (12) 12
temporal-lobe epilepsy (12) 12
clobazam (11) 11
cohort studies (11) 11
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
by Appenzeller, Silke and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Dimova, Petia and Djémié, Tania and Gormley, Padhraig and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby and Komarek, Vladimir and Krause, Roland and Kuhlenbäumer, Gregor and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Møller, Rikke S and Muhle, Hiltrud and Pal, Deb and Palotie, Aarno and Pendziwiat, Manuela and Robbiano, Angela and Roelens, Filip and Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alldredge, Brian K and Andermann, Eva and Andermann, Frederick and Amron, Dina and Bautista, Jocelyn F and Berkovic, Samuel F and Bluvstein, Judith and Boro, Alex and Cascino, Gregory and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Dlugos, Dennis and Epstein, Michael P and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haas, Kevin and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and Kuzniecky, Ruben and Lowenstein, Daniel H and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Ottman, Ruth and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Poduri, Annapurna and Sadleir, Lynette and Scheffer, Ingrid E and Shellhaas, Renée A and Sherr, Elliott and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joe and Thio, Liu Lin and ... and Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project and Epilepsy Phenome/Genome Project
The American Journal of Human Genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 360 - 370
Journal Article
Epilepsia, ISSN 0013-9580, 02/2016, Volume 57, Issue 2, pp. 182 - 193
Autism and epilepsy are two associated disorders that are highly prevalent, share common developmental origins, and demonstrate substantial heritability. In... 
Gamma‐aminobutyric acid | Epileptic encephalopathy | Epilepsy | Cortical interneuron | Autism spectrum disorder | Gamma-aminobutyric acid | RETT-SYNDROME | CLINICAL NEUROLOGY | CHILDREN | LANDAU-KLEFFNER | SEIZURES | DE-NOVO MUTATIONS | MOUSE MODEL | FRAGILE-X-SYNDROME | DRAVET-SYNDROME | SEVERE MYOCLONIC EPILEPSY | MICE | Landau-Kleffner Syndrome - physiopathology | Neural Inhibition | Spasms, Infantile - physiopathology | gamma-Aminobutyric Acid - metabolism | Humans | Autism Spectrum Disorder - complications | Child, Preschool | Infant | Aicardi Syndrome - genetics | Epilepsy - physiopathology | Spasms, Infantile - genetics | Cerebral Cortex - metabolism | Lennox Gastaut Syndrome - genetics | Lennox Gastaut Syndrome - psychology | Cerebral Cortex - physiopathology | Landau-Kleffner Syndrome - psychology | Epilepsy - genetics | Neurons - metabolism | Spasms, Infantile - complications | Child | Epilepsies, Myoclonic - genetics | Autism Spectrum Disorder - genetics | Epilepsy - psychology | Aicardi Syndrome - complications | Epilepsies, Myoclonic - physiopathology | Spasms, Infantile - psychology | Autism Spectrum Disorder - psychology | Landau-Kleffner Syndrome - genetics | Epilepsies, Myoclonic - complications | Epilepsy - complications | Landau-Kleffner Syndrome - complications | Aicardi Syndrome - psychology | Epilepsies, Myoclonic - psychology | Interneurons - metabolism | Aicardi Syndrome - physiopathology | Lennox Gastaut Syndrome - complications | Lennox Gastaut Syndrome - physiopathology | Autism Spectrum Disorder - physiopathology | GABA | Autism | Neurosciences
Journal Article
Human Mutation, ISSN 1059-7794, 10/2017, Volume 38, Issue 10, pp. 1348 - 1354
Aminoacyl‐transfer RNA (tRNA) synthetases ligate amino acids to specific tRNAs and are essential for protein synthesis. Although alanyl‐tRNA synthetase (AARS)... 
microcephaly | hypomyelination | transfer RNA | aminoacylation defect | AARS | MARIE-TOOTH-DISEASE | NEUROPATHY | AARS MUTATION | ATROPHY | GENETICS & HEREDITY | MEDICINE | BINDING | Spastic Paraplegia, Hereditary - genetics | Lennox Gastaut Syndrome - diagnosis | Microcephaly - genetics | Humans | Child, Preschool | Infant | Electroencephalography | Amino Acid Sequence - genetics | Spasms, Infantile - genetics | Aminoacylation - genetics | Lennox Gastaut Syndrome - genetics | Charcot-Marie-Tooth Disease - genetics | Alanine-tRNA Ligase - genetics | Microcephaly - pathology | Female | Protein Biosynthesis - genetics | Spasms, Infantile - complications | Spastic Paraplegia, Hereditary - pathology | Siblings | Microcephaly - diagnostic imaging | Spasms, Infantile - diagnostic imaging | Charcot-Marie-Tooth Disease - pathology | Mutation - genetics | Whole Exome Sequencing | Spasms, Infantile - pathology | Lennox Gastaut Syndrome - pathology | Spastic Paraplegia, Hereditary - complications | Lennox Gastaut Syndrome - complications | Medical research | Career development | Nervous system diseases | Neurosciences | Ligases | Encephalopathy | Epilepsy | Medicine, Experimental | Amino acids | Protein biosynthesis | Transfer RNA | Aminoacylation | tRNA | Spasticity | Microcephaly | Ribonucleic acid--RNA | Neurological diseases | Microencephaly | Alanine-tRNA ligase | Charcot-Marie-Tooth disease | Mutation
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 2506 - 14
Journal Article
by Allen, Andrew S and Berkovic, Samuel F and Coe, Bradley P and Cook, Joseph and Cossette, Patrick and Delanty, Norman and Dlugos, Dennis and Eichler, Evan E and Epstein, Michael P and Glauser, Tracy and Goldstein, David B and Heinzen, Erin L and Johnson, Michael R and Krumm, Nik and Kuzniecky, Ruben and Lowenstein, Daniel H and Marson, Anthony G and Mefford, Heather C and Nelson, Ben and Esmaeeli Nieh, Sahar and O'Brien, Terence J and Ottman, Ruth and Petrou, Stephen and Petrovski, Slavé and Poduri, Annapurna and Raja, Archana and Ruzzo, Elizabeth K and Scheffer, Ingrid E and Sherr, Elliott and Abou‐Khalil, Bassel and Alldredge, Brian K and Andermann, Eva and Andermann, Frederick and Amron, Dina and Bautista, Jocelyn F and Berkovic, Samuel F and Boro, Alex and Cascino, Gregory and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Dlugos, Dennis and Epstein, Michael P and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and Kuzniecky, Ruben and Lowenstein, Daniel H and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Ottman, Ruth and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Poduri, Annapurna and Scheffer, Ingrid E and Shellhaas, Renée A and Sherr, Elliott and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joe and Thio, Liu Lin and Venkat, Anu and Vining, Eileen P.G and Von Allmen, Gretchen K and Weisenberg, Judith L and Widdess‐Walsh, Peter and Winawer, Melodie R and Epi4K Consortium and Epilepsy Phenome Genome Project and Epilepsy Phenome/Genome Project Epi4K Consortium
Annals of Neurology, ISSN 0364-5134, 08/2015, Volume 78, Issue 2, pp. 323 - 328
Infantile spasms (IS) and Lennox–Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor... 
RISK | AUTISM | DE-NOVO MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | Humans | Parents | Child, Preschool | Infant | Male | Spasms, Infantile - genetics | Sequence Analysis, DNA | Lennox Gastaut Syndrome - genetics | DNA Copy Number Variations | Exome - genetics | Adult | Female | Infant, Newborn | Cohort Studies | Babies | Brief Communication | Brief Communications
Journal Article